Beta-propeller protein-associated neurodegeneration

General Information (adopted from Orphanet):

Synonyms, Signs: STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD
BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION
NBIA4
NBIA5
BPAN
SENDA
Neurodegeneration with brain iron accumulation type 4
Static encephalopathy of childhood with neurdegeneration in adulthood
Number of Symptoms 27
OrphanetNr: 329284
OMIM Id: 300894
ICD-10: G23.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Neurodegeneration with brain iron accumulation
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000496) Abnormality of eye movement 79 / 7739
2
 (HPO:0002313) Spastic paraparesis 33 / 7739
3
 (HPO:0001337) Tremor 200 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
6
 (HPO:0000718) Aggressive behavior rare [HPO:skoehler] 109 / 7739
7
 (HPO:0002459) Dysautonomia 34 / 7739
8
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
9
 (HPO:0002465) Poor speech 31 / 7739
10
 (HPO:0000743) Frontal release signs 6 / 7739
11
 (HPO:0001332) Dystonia 197 / 7739
12
 (HPO:0001344) Absent speech 57 / 7739
13
 (HPO:0002360) Sleep disturbance 113 / 7739
14
 (HPO:0002067) Bradykinesia 62 / 7739
15
 (HPO:0002063) Rigidity 92 / 7739
16
 (HPO:0001263) Global developmental delay 853 / 7739
17
 (HPO:0000726) Dementia 131 / 7739
18
 (HPO:0001300) Parkinsonism 75 / 7739
19
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
20
 (HPO:0002059) Cerebral atrophy 171 / 7739
21
 (OMIM) T1-weighted hyperintensity surrounding a central band of hypointensity in the substantia nigra 1 / 7739
22
 (HPO:0002180) Neurodegeneration 31 / 7739
23
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
24
 (OMIM) Iron deposition in the globus pallidus and substantia nigra seen on MRI 1 / 7739
25
 (HPO:0001272) Cerebellar atrophy 197 / 7739
26
 (OMIM) Retinal nerve atrophy (in some patients) 1 / 7739
27
 (OMIM) Lack of speech 17 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) NBIA5, sometimes referred to as 'static encephalopathy of childhood with neurodegeneration in adulthood (SENDA),' is an X-linked neurodegenerative disorder characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until ...
Clinical Description OMIM In a review of the clinical and genetic features of various forms of NBIA, Gregory et al. (2009) identified a group of 7 patients with a distinctive form of idiopathic NBIA in whom no mutations had been found. ...
Molecular genetics OMIM In 20 unrelated patients with neurodegeneration with brain iron accumulation-5, Haack et al. (2012) identified 19 different hemizygous or heterozygous de novo mutations in the WDR45 gene (see, e.g., 300526.0001-300526.0002). Most of the mutations were truncating, but 2 ...